Project/Area Number |
26670481
|
Research Category |
Grant-in-Aid for Challenging Exploratory Research
|
Allocation Type | Multi-year Fund |
Research Field |
Collagenous pathology/Allergology
|
Research Institution | Tokyo Metropolitan Geriatric Hospital and Institute of Gerontology |
Principal Investigator |
Tanaka Masashi 地方独立行政法人東京都健康長寿医療センター(東京都健康長寿医療センター研究所), 東京都健康長寿医療センター研究所, 協力研究員 (60155166)
|
Co-Investigator(Kenkyū-buntansha) |
Makoto Yoneda 福井県立大学, 看護福祉学部, 教授 (70270551)
|
Project Period (FY) |
2014-04-01 – 2016-03-31
|
Project Status |
Completed (Fiscal Year 2015)
|
Budget Amount *help |
¥3,640,000 (Direct Cost: ¥2,800,000、Indirect Cost: ¥840,000)
Fiscal Year 2015: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2014: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
|
Keywords | 橋本脳症 / 慢性甲状腺炎 / エクソーム解析 / HLA-DRA / 抗N末端α-エノラーゼ / 関連解析 / エクソン領域 / 機能的多型 / アミノ酸置換 / 自己免疫疾患 / 橋本甲状腺炎 / 遺伝子多型 |
Outline of Final Research Achievements |
Hashimoto encephalopathy associated with thyroiditis is an autoimmune disease characterized by dementia and psychological symptoms. In the present study, we analyzed 240K functional SNPs in the whole exome region. In autopsied cases, chronic lymphocytic thyroiditis was associated with polymorphisms in the HLA-DRA locus. Comparison between the anti-NAE Ab-positive Hashimoto encephalopathy group and the anti-NAE Ab-negative Hashimoto thyroiditis group revealed several missense mutations in the genes encoding proteins that potentially influence their antigenicity. These studies would pave the way to identification of genetic polymorphisms associated with pathogenesis, subtype classification, and variations in response to steroid therapy of Hashimoto encephalopathy.
|